Cystic fibrosis

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at February 8, 2016
StartDiseasesCystic fibrosis

Cystic fibrosis or CF is an inherited disorder that causes the affected individual to produce mucus and sweat that is thick and sticky, causing blockages and plugs in the body's pathways. CF is a fatal disease and life expectancy in the United States is about 37 years of age.

Contents

Definition & Facts

Cystic fibrosis causes an individual's mucus to thicken and become lodged in the body's pathways, typically in the individual's lungs or pancreas. When these pathways become blocked, infection-causing bacteria becomes stuck in the clogged organ. This bacteria spreads, resulting in infection and with it lung damage or even lung failure. When the pancreas becomes blocked and infected, the individual is unable to break down food and receive the nutrients he or she needs.

There are about 30,000 individuals in the United States with cystic fibrosis with nearly half under the age of 18. Children with cystic fibrosis should still be able to attend school, play with friends, and join clubs and sports. In fact, exercise or sports can help a strengthen a child's lungs and help clear excess mucus from the pathways. It is always important to talk to a doctor before joining a sport or engaging in rigorous physical activity.

Symptoms & Complaints

Cystic fibrosis is most usually identified in children, with over 3/4 of the cystic fibrosis population receiving their diagnosis before their second birthday. It is important to remember that symptoms vary from case to case, and not all sufferers of cystic fibrosis will have the same symptoms. Nevertheless some of the most common symptoms include:

Causes

Because cystic fibrosis is a genetic disease, the individual is born with the condition. In order for a child to have cystic fibrosis, they must receive one copy of the defective gene from each parent, meaning each of the parents is a carrier of the cystic fibrosis gene. When two carriers have a child, there is a 25% chance that the child will be born with cystic fibrosis.

While it is not a guarantee that two cystic fibrosis carriers will give birth to a child with cystic fibrosis, there is a good chance that their child will also be a carrier of the disease. It is also possible that two carriers of the disease will have a child with no trace of the gene. Cystic fibrosis is not a contagious disease and cannot be passed from one child to another.

Diagnosis & Tests

Because cystic fibrosis is such a serious disease and often occurs in small children, babies are screened and tested for cystic fibrosis at birth. With over 1,800 mutations of cystic fibrosis, not every case of the disease is the same. Instead of checking for all cystic fibrosis possibilities, babies are only initially checked for the most common CF gene mutations.

If the doctor detects symptoms of cystic fibrosis during the initial screening, he or she will call for additional tests to be done. These tests typically include a sweat chloride test, a genetic test, or a special visit to a cystic fibrosis specialist. Usually, one of these tests can conclusively diagnose a case of cystic fibrosis. If the test is unable to give a clear response, the individual may need to undergo additional testing.

Additional testing includes X-rays of the chest or sinuses, a sputum culture, or pulmonary function tests. It is also possible to get a prenatal diagnosis through amniocentesis in which doctors test the fluid around the baby in the uterus.

Treatment & Therapy

Thanks to the development of treatments and therapies for cystic fibrosis, those with the disease are able to live much longer lives than they could expect in the past. Even with these developments, not all children diagnosed with the disease can expect to live past their teenage years. Because of this, cystic fibrosis patients need to remain as healthy as possible, eat nutritious meals, and stay consistent about their treatment routine.

A treatment routine for a cystic fibrosis patient typically includes medications to reduce inflammation and antibiotics to fight off infections and bacteria. Many of the medications used to treat individuals with cystic fibrosis are not recommended for children under the age of six. Other forms of treatment and therapy include airway clearance techniques which can help remove excess fluid and mucus from the lungs, inhaled antibiotics, or a nebulizer, which changes a liquid medicine into mist. Unfortunately, there is no cure for cystic fibrosis.

Prevention & Prophylaxis

Because cystic fibrosis is a genetic disorder, it can't be prevented. If you know you are a carrier of the cystic fibrosis disease, it is important to remember that there is always a chance your child may be born with the condition. If CF runs in your family or your partner's family, you can choose to have a cystic fibrosis carrier test done before conceiving a pregnancy.